ClinVar Miner

Variants in gene ARID1B

Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
138 36 113 133 39 1 1 427

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
History of neurodevelopmental disorder 3 0 30 84 30 0 0 147
not provided 74 17 37 13 5 0 1 145
not specified 0 0 41 54 18 0 0 112
Coffin-Siris syndrome 1 54 11 3 0 0 0 0 67
Inborn genetic diseases 16 3 2 0 0 0 0 21
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 4 0 0 0 0 0 0 4
Coffin Siris/Intellectual Disability 2 0 2 0 0 0 0 4
Coffin-Siris syndrome 0 2 1 0 0 0 0 3
Intellectual disability 0 0 0 2 0 0 0 2
See cases 1 1 0 0 0 0 0 2
Astrocytoma 0 0 1 0 0 0 0 1
Hypertrichosis; Global developmental delay; Agenesis of corpus callosum; Neonatal hypotonia; Nail dysplasia 1 0 0 0 0 0 0 1
Hypertrichosis; Global developmental delay; Bilateral cryptorchidism; Delayed speech and language development; Intellectual disability; Neurological speech impairment 0 1 0 0 0 0 0 1
Medulloblastoma 0 0 0 0 0 1 0 1
Nicolaides-Baraitser syndrome 1 0 0 0 0 0 0 1
Seizures; Short stature; Failure to thrive; Constipation; Recurrent respiratory infections; Microcephaly; Decreased body weight 0 0 1 0 0 0 0 1
Torticollis; Global developmental delay; Short stature; Dysphagia; Premature birth; Generalized hypotonia; Joint hypermobility; Relative macrocephaly; Capillary hemangiomas; Congenital talipes calcaneovalgus 1 0 0 0 0 0 0 1
intellectual deficiency; dysmorphy 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Ambry Genetics 19 3 32 84 30 0 0 168
Genetic Services Laboratory, University of Chicago 17 2 38 51 18 0 0 126
GeneDx 69 8 11 2 0 0 0 90
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 5 13 4 0 0 22
Baylor Miraca Genetics Laboratories, 13 1 0 0 0 0 0 14
Gharavi Laboratory,Columbia University 0 0 13 0 0 0 0 13
OMIM 12 0 0 0 0 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 8 0 0 0 0 12
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 5 1 0 0 0 0 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 2 0 0 0 0 6
Institute of Human Genetics,Cologne University 2 2 0 0 0 0 0 4
Fulgent Genetics 2 0 2 0 0 0 0 4
HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 4 0 0 0 0 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 1 2 0 0 0 0 0 3
Laboratory of Molecular Genetics,CHU RENNES 0 3 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 0 0 3
Laboratoire de Cytogenetique,Hospices Civils de Lyon 2 1 0 0 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 1 0 0 0 0 2
GeneReviews 2 0 0 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
ISCA site 1 1 1 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 1 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine,Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 1 1

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